List of variants reported as pathogenic for Spinocerebellar ataxia, autosomal recessive 29 by OMIM

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter)	rs199716160	0.00021
NM_014396.4(VPS41):c.1423-2A>G	rs1220530084	0.00001
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro)	rs544223875	0.00001
NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro)	rs1244049089
NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe)	rs1246628003
NM_014396.4(VPS41):c.450+1G>T	rs2116102196

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